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Article

Attenuated variants of Lesch-Nyhan disease.

Brain : a journal of neurology - 1 Mar 2010

Jinnah H A, Ceballos-Picot Irene, Torres Rosa J, Visser Jasper E, Schretlen David J, Verdu Alfonso, Laróvere Laura E, Chen Chung-Jen, Cossu Antonello, Wu Chien-Hui, Sampat Radhika, Chang Shun-Jen, de Kremer Raquel Dodelson, Nyhan William, Harris James C, Reich Stephen G, Puig Juan G

Abstract excerpt

Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability...

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Identifiers

PMID: 20176575
DOI: 10.1093/brain/awq013
PMCID: PMC2842514

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20176575-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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